Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215817279_215817280insCT , CM000663.2:g.215817279_215817280insCT | GRCh38 |
| NC_000001.10:g.215990621_215990622insCT , CM000663.1:g.215990621_215990622insCT | GRCh37 |
| NC_000001.9:g.214057244_214057245insCT | NCBI36 |
| NG_009497.1:g.611117_611118insAG | |
| NG_009497.2:g.611169_611170insAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9372-85_9372-84insAG MANE Select | ENSP00000305941.3:n.9372-85_9372-84insAG | |
| ENST00000674083.1:c.9372-85_9372-84insAG | ENSP00000501296.1:n.9372-85_9372-84insAG | |
| ENST00000307340.7:c.9372-85_9372-84insAG | ENSP00000305941.3:n.9372-85_9372-84insAG | |
| NM_206933.2:c.9372-85_9372-84insAG | NP_996816.2:n.9372-85_9372-84insAG | |
| NM_206933.3:c.9372-85_9372-84insAG | NP_996816.2:n.9372-85_9372-84insAG | |
| NM_206933.4:c.9372-85_9372-84insAG MANE Select | NP_996816.3:n.9372-85_9372-84insAG |